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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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Nijmegen Syndrome

  • Chrzanowska K H, Kleijer W J, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michalkiewicz J, Stachowski J, Gregorek H, Lyson-Wojciechowska G, Janowicz W, Jozwiak S.: Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome. AJMG 57:462-471, 1995. [PubMed: 7545870]
    Chromosomal abnormalities were inv(7)(p13q34), t(7;14)(q34;q11), t(7;14)(p13;q11), t(7;7)(p13;q34), tan(14;14)(q11;q32).
  • Der Kaloustian V M, Elliott A M, Eydoux P.: Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome? J. Med. Genet. 32:998, 1995. [PMC free article: PMC1051794] [PubMed: 8825936]
    The authors present an argument that the patient of Woods et al (1995) may have NBS.

    Matsuura S, Tauchi H, Nakamura A, Kondo N, Sakamoto S, Endo S, Smeets D, Solder B, Belohradsky B H, Der Kaloustian V M, Oshimura M, Isomura M, Nakamura Y, Komatsu K.: Positional cloning of the gene for Nijmegen breakage syndrome. Nature Genet. 19:179-1181, 1998. [PubMed: 9620777]
    Taalman R D F M, Hustinx T W J, Weemaes C M R, Seemanova E, Schmidt A, Passarge E, Scheres J M J C: Further delineation of the Nijmegen breakage syndrome. AJMG 32:425-431, 1989. [PubMed: 2786340]
    The NBS gene at 8q21 comprises 50kb and encodes a protein of 754 amino acids.
    Five independent families are reported.
    The main manifestations inculde microcephaly, short stature, a "bird-like" face, immunological defects involving both the humoral and the cellular system.
    MIM#: 251260
  • Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L.: A novel mutation and novel features in Nijmegen breakage syndrome. J. Med. Genet. 38:113-117, 2001. [PMC free article: PMC1734798] [PubMed: 11288710]
    Maraschio P, Spadoni E, Tanzarella C, Antoccia A, di Masi A, Maghnie M, Varon R, Demuth I, Tiepolo L, Danesino C.: Genetic heterogeneity for a Nimegen breakage-like syndrome. Clin. Genet. 63:283-290; DOI=10.1034/j.1399-0004.2003.00054x, 2003. [PubMed: 12702161]
    P.M. a boy born in May 1997.
    The patient is affected with a disorder characterized by developmental defects, NBS bird-like face, immunodeficiency, chromosome instability and radiosensitivity, but with normal cellular levels of nibrin, hMre11 and rad50, and no mutations in the NBS1, LIG4 and XRCC4 genes.
    The patient, a 2 year old, was of Moroccon ancestry.
    Index Terms: Nijmegen breakage-like syndrome,NBS1
  • Perez-Vera P, Gonzales-del Angel A, Molina B, Gomez L, Frias S, Gatti R A, Carnevale A.: Chromosome instability with bleomycin and X-ray breakage syndrome AJMG 70:24-27, 1997. [PubMed: 9129736]
    Index Terms: Bleomycin
  • Shiloh Y.: Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Ann. Rev. Genet. 31:635-662, 1997. [PubMed: 9442910]
  • Antoccia A, Ricordy R, Maraschios P, Prudente S, Tanzarella C.: Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines. Int. J. Radiat. Biol. 71:41-49, 1997. [PubMed: 9020962]
    Tanzarella C, Antoccia A, Spadoni E, di Masi A, Pecile V, Demori E, Varon R, Marseglia G L, Tiepolo L, Maraschio P.: Chromosome instability and nibrin protein variants in NBS heterozygotes. Europ. J. Hum. Genet. 11:297-303, 2003. [PubMed: 12708449]
  • Tupler R, Marseglia G L, Stefanini M, Prosperi E, Chessa L, Nardo T, Marchi A, Maraschio P.: A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. J. Med. Genet. 34:196-202, 1997. [PMC free article: PMC1050892] [PubMed: 9132489]
    Patient was of Italian ancestry.
  • van der Burgt I, Chrzanowska K H, Smeets D, Weemaes C.: Nijmegen breakage syndrome J. Med. Genet. 33: 153-156, 1996. [PMC free article: PMC1051843] [PubMed: 8929954]
    MIM#: 251260
  • Weemaes C M R, Hustinx T W J, Scheres J M J C, Van Munster P J J, Bakkeren J A J M, Taalman R D F M: A new chromosomal instability disorder: The Nijmegen breakage syndrome. Acta Paed. Scand. 70:557-564, 1981. [PubMed: 7315300]
    The 10 year old boy had microcephaly, stunted growth, mental retardation, cafe-au-lait spots and immunodeficiency.
    MIM#: 251260
    Index Terms: Microcephaly,Skin ... cafe-au-lait spots
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105736

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